CLCN1

(redirected from chloride channel protein 1)

CLCN1

A gene on chromosome 7q34 that encodes a voltage-gated chloride channel that regulates the electric excitability of skeletal muscle membranes.
 
Molecular pathology
CLCN1 mutations cause autosomal recessive generalised myotonia congenita (Becker type) and autosomal dominant myotonia (Thomsen disease).
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